Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5142 | 15649;15650;15651 | chr2:178734400;178734399;178734398 | chr2:179599127;179599126;179599125 |
| N2AB | 4825 | 14698;14699;14700 | chr2:178734400;178734399;178734398 | chr2:179599127;179599126;179599125 |
| N2A | 3898 | 11917;11918;11919 | chr2:178734400;178734399;178734398 | chr2:179599127;179599126;179599125 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1400360100  |
-0.618 | 0.025 | N | 0.303 | 0.168 | 0.420080204436 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.1489E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs1400360100 |
-0.618 | 0.025 | N | 0.303 | 0.168 | 0.420080204436 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs1400360100 |
-0.618 | 0.025 | N | 0.303 | 0.168 | 0.420080204436 | gnomAD-4.0.0 | 3.84689E-06 | None | None | None | None | N | None | 3.38364E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.3954E-06 | 0 | 0 |
| V/F | rs1417902280 |
-0.75 | 0.967 | N | 0.683 | 0.294 | 0.781774819458 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| V/F | rs1417902280 |
-0.75 | 0.967 | N | 0.683 | 0.294 | 0.781774819458 | gnomAD-4.0.0 | 6.84316E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99556E-07 | 0 | 0 |
| V/I | None | None | 0.025 | N | 0.267 | 0.08 | 0.344483371355 | gnomAD-4.0.0 | 1.36863E-06 | None | None | None | None | N | None | 2.98882E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99556E-07 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1094 | likely_benign | 0.1117 | benign | -0.887 | Destabilizing | 0.025 | N | 0.303 | neutral | N | 0.424941447 | None | None | N |
| V/C | 0.7313 | likely_pathogenic | 0.7895 | pathogenic | -0.754 | Destabilizing | 0.997 | D | 0.659 | neutral | None | None | None | None | N |
| V/D | 0.5659 | likely_pathogenic | 0.5909 | pathogenic | -0.016 | Destabilizing | 0.983 | D | 0.757 | deleterious | N | 0.508314711 | None | None | N |
| V/E | 0.3832 | ambiguous | 0.3968 | ambiguous | -0.036 | Destabilizing | 0.975 | D | 0.72 | prob.delet. | None | None | None | None | N |
| V/F | 0.251 | likely_benign | 0.3032 | benign | -0.669 | Destabilizing | 0.967 | D | 0.683 | prob.neutral | N | 0.511410797 | None | None | N |
| V/G | 0.2409 | likely_benign | 0.2601 | benign | -1.159 | Destabilizing | 0.935 | D | 0.665 | neutral | N | 0.499492029 | None | None | N |
| V/H | 0.685 | likely_pathogenic | 0.757 | pathogenic | -0.592 | Destabilizing | 0.999 | D | 0.733 | prob.delet. | None | None | None | None | N |
| V/I | 0.0723 | likely_benign | 0.0798 | benign | -0.272 | Destabilizing | 0.025 | N | 0.267 | neutral | N | 0.502028615 | None | None | N |
| V/K | 0.453 | ambiguous | 0.5001 | ambiguous | -0.57 | Destabilizing | 0.975 | D | 0.721 | prob.delet. | None | None | None | None | N |
| V/L | 0.2491 | likely_benign | 0.3108 | benign | -0.272 | Destabilizing | 0.369 | N | 0.355 | neutral | N | 0.511402229 | None | None | N |
| V/M | 0.1427 | likely_benign | 0.164 | benign | -0.342 | Destabilizing | 0.975 | D | 0.553 | neutral | None | None | None | None | N |
| V/N | 0.3417 | ambiguous | 0.4135 | ambiguous | -0.386 | Destabilizing | 0.987 | D | 0.756 | deleterious | None | None | None | None | N |
| V/P | 0.848 | likely_pathogenic | 0.8976 | pathogenic | -0.44 | Destabilizing | 0.987 | D | 0.735 | prob.delet. | None | None | None | None | N |
| V/Q | 0.4038 | ambiguous | 0.4516 | ambiguous | -0.495 | Destabilizing | 0.987 | D | 0.738 | prob.delet. | None | None | None | None | N |
| V/R | 0.3836 | ambiguous | 0.4289 | ambiguous | -0.173 | Destabilizing | 0.987 | D | 0.756 | deleterious | None | None | None | None | N |
| V/S | 0.1731 | likely_benign | 0.1918 | benign | -0.982 | Destabilizing | 0.95 | D | 0.624 | neutral | None | None | None | None | N |
| V/T | 0.1112 | likely_benign | 0.1252 | benign | -0.873 | Destabilizing | 0.916 | D | 0.441 | neutral | None | None | None | None | N |
| V/W | 0.869 | likely_pathogenic | 0.9104 | pathogenic | -0.795 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | None | N |
| V/Y | 0.6726 | likely_pathogenic | 0.7584 | pathogenic | -0.481 | Destabilizing | 0.987 | D | 0.684 | prob.neutral | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.